mitochondrial disease -...
TRANSCRIPT
Mitochondrial Disease
Comprehensive Genetic Testing
“Every 30 minutes, a child is born who will develop
a mitochondrial disease by age 10.”— United Mitochondrial Disease Foundation
Why Order a Genetic Test?
Establishes a specific, genetic diagnosis
Guides management of the disease and potential treatment options
Offers prognostic information
Enables highly targeted genetic counseling
P 877.395.7608 | F 617.892.7192
© 2014 Courtagen Diagnostic Laboratory
Courtagen Diagnostic Laboratory is a CAP accredited and CLIA
certified genetic testing laboratory.
Ordering TestsCourtagen provides DNA specimen collection kits free to our customers.
To order a kit, visit our website at:www.courtagen.com
Contact our patient advocate team at:1.877.395.7608 or email us at [email protected]
Symptom Guide for Physicians:www.MitoAction.org/guidewww.UMDF.org
Unmatched Customer Support• Saliva: A single saliva sample can provide results
in weeks, not months. While blood samples can be used, no blood draw is required.
• Insurance Assistance: Courtagen works with patients, clinicians and insurance carriers to pre-approve each test, bill the insurance company, and appeal as needed.
• Courtagen Care Financial Program: For qualified patients, the Courtagen Care Financial Program can help limit out-of-pocket expenses for genetic testing to $0, $50, or $100.
• Genetic Counselors: Available to address questions regarding Courtagen test results.
• Online Portal: A physician online portal is available for ordering genetic tests, and accessing patient reports when completed.
• Data and DNA Security: Advanced IT solutions safeguard patient records and financial information. In the laboratory, Courtagen de-identifies patient and test records and uses the proprietary method of DREAM PCR to provide exceptional lab decontamination.
Courtagen Diagnostic Laboratory’s Medical Director, Dr. Richard Boles, M.D., is a renowned expert in the
treatment and genetic interpretation of mitochondrial disorders. Dr. Boles has 25 years of experience treating
patients suffering from mitochondrial diseases.
mtSEEK® & nucSEEK®
Sequence Analysis for
MitochondrialDisease
Mitochondrial Disease Mitochondrial disorders occur in approximately 1 of every 4,000 individuals.
What are Mitochondrial Disorders?Mitochondrial disorders result from failures of the mitochondria, which are specialized organelles in the cell that act as the energy source for daily body activity. When mitochondria fail, less and less energy is generated. As a result, whole systems begin to fail, and the health of the person is severely compromised.
What Does it Look Like? Diseases of the mitochondria cause the most damage to cells of high energy demand such as the brain, heart, liver, skeletal muscles, kidneys, and the endocrine, gastrointestinal, and respiratory systems.• Symptomsandseveritycanvaryfrompersonto
person, even within the same family. • Mitodisordersofteninvolveseveralbodysystemsat
once, and symptoms can be intermittent.
Courtagen Offers: mtSEEK® & nucSEEK®
Two simple tests provide the most comprehensive identification of pathogenic mutations associated with mitochondrial disease.
mtSEEK® Mitochondrial Genome Sequencing with Deletion Detection and Heteroplasmy Analysis: Complete sequence analysis of the16,569 nucleotide bases that make up the 37 genes of the mitochondrial genome. The assay includes >10,000x sequencing coverage for highest accuracy and heteroplasmy detection as low as 2.5%.
nucSEEK® Comprehensive Sequence Analysis of the Nuclear Mitochondrial Exome: Over 1,100 proteins encoded in the nuclear genome are imported into the mitochondria. Courtagen’snucSEEK® test has detection sensitivity of 99% and specificity of 99.99%.
Both mitochondrial DNA and nuclear DNA abnormalities are known to cause mitochondrial disorders.
ThemtSEEK®andnucSEEK® tests are validated on saliva and blood samples.
Common Symptoms:
A single saliva sample can provide comprehensive results in weeks vs.
months, eliminating the need for costly, invasive, and risky muscle biopsies.
Brain• Developmental delays• Dementia• Migraines• Autistic Features• Intellectual disability•Seizures•Strokes-likeepisodes
Nervous System• Weakness (may be
intermittent)• Absent reflexes• Fainting, dizziness• Neuropathic pain• Heat, cold intolerance• Pallor, blotchiness
Muscles• Weakness, fatigue• Cramping• Muscle pain• Exercise intolerance
Gastrointestinal• Cyclic vomiting• Dysmotility• Failure to thrive• Gastroesophogeal reflux• Diarrhea or constipation• Pseudo-obstruction
Kidneys• Renal tubular acidosis or
wasting
Heart• Cardiac conduction
defects (heart blocks)• Cardiomyopathy
Liver• Hypoglycemia (low blood
sugar)• Liver failure
Ears & Eyes• Visual loss and blindness• Ptosis (droopy eyelids)• Ophthalmoplegia• Optic atrophy• Hearing loss and
deafness• Acquired strabismus• Retinitis pigmentosa
Pancreas & Other Glands• Diabetes and exocrine
pancreatic failure (inability to make digestive enzymes)
• Parathyroid failure (low calcium)